Submissions for variant NM_013296.5(GPSM2):c.278+5T>C

gnomAD frequency: 0.03074  dbSNP: rs9727773

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038783	SCV000062461	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	278+5T>C in Intron 03 of GPSM2: This variant is not expected to have clinical si gnificance because it has been identified in 10.3% (384/3738) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs9727773).
Illumina Laboratory Services, Illumina	RCV000347666	SCV000347050	likely benign	Chudley-McCullough syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000038783	SCV000521945	benign	not specified	2016-03-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000711835	SCV000842240	benign	not provided	2018-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711835	SCV001108337	benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711835	SCV005259224	likely benign	not provided		criteria provided, single submitter	not provided